Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614122 http://purl.bioontology.org/ontology/OMIM/614122
Preferred Name	CHITOTRIOSIDASE DEFICIENCY
Synonyms	CHITD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHITD
prefLabel	CHITOTRIOSIDASE DEFICIENCY
Gene Symbol	CHIT1 CHIT CHITD
Scope Statement	'Nondisease' [MISCELLANEOUS] Caused by mutation in the chitinase 1 gene (CHIT1, 600031.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054964
tui	T047
Gene Locus	1q31-q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614122
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3279902
OMIM Entry Type	3
OMIM MimType Value	pound

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